Suchergebnisse - "Bariana, Tadbir K"

PubPharm (25)

1

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

enthalten in: bioRxiv.org | 2021

von Sims, M. | Mayer, L. | Collins, J. | +60

2

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

enthalten in: Blood | 2020

von Sims, M. | Mayer, L. | Collins, J. | +61

CommentIn: Blood. 2020 Oct 22;136(17):1900-1901. - PMID 33091135

3

Publisher Correction : Whole-genome sequencing of a sporadic primary immunodeficiency cohort

enthalten in: Nature | 2020

von Thaventhiran, J. | Lango Allen, H. | Burren, O. | +157

ErratumFor: Nature. 2020 Jul;583(7814):90-95. - PMID 32499645

4

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

enthalten in: Nature | 2020

von Thaventhiran, J. | Lango Allen, H. | Burren, O. | +157

ErratumIn: Nature. 2020 Aug;584(7819):E2. - PMID 32678341

5

Next-generation sequencing for the diagnosis of MYH9-RD : Predicting pathogenic variants

enthalten in: Human mutation | 2020

von Bury, L. | Megy, K. | Stephens, J. | +34

6

Next‐generation sequencing for the diagnosis of MYH9‐RD : Predicting pathogenic variants

enthalten in: Human mutation | 2020

von Bury, L. | Megy, K. | Stephens, J. | +34

7

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

enthalten in: Haematologica | 2019

von Bariana, T. | Labarque, V. | Heremans, J. | +19

8

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

enthalten in: American journal of human genetics | 2018

von Whitworth, J. | Smith, P. | Martin, J. | +141

9

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

enthalten in: American journal of human genetics | 2018

von Ito, Y. | Carss, K. | Duarte, S. | +118

10

Nbeal2 interacts with Dock7, Sec16a, and Vac14

enthalten in: Blood | 2018

von Mayer, L. | Jasztal, M. | Pardo, M. | +15

CommentIn: Blood. 2018 Mar 1;131(9):949-950. - PMID 29496701